Stephan L. Zuchner

This study identifies excessive RAS/MAPK pathway activation as a cause of adult-onset motor axonal degeneration in Drosophila, showing that inhibiting the pathway can rescue neurodegenerative phenotypes.

This study shows that SynTEF1 restores FGF14 expression and neuronal function in SCA27B patient-derived neurons.

This study identifies genetic loci associated with diabetic peripheral neuropathy, implicating serine biosynthesis in disease susceptibility through convergent evidence from common and rare variants.

The paper identifies a CCG expansion in TBC1D7 as a cause of oculopharyngodistal myopathy, showing variable repeat structure and epigenetic regulation.

This study identifies digenic inheritance of SPG7 and AFG3L2 mutations as a cause of motor neuron and cerebellar disorders in 17 patients.

The paper investigates whether CPT1C loss-of-function variants cause hereditary spastic paraplegia (HSP) by analyzing genomic data from multiple cohorts and finds no causal association.

The paper analyzes long-read sequencing data from the All of Us Research Program to identify structural variants and their associations with diseases in a large cohort of Black or African American participants.

The paper analyzes pentanucleotide tandem repeats in human genomes using long-read sequencing, revealing extensive variability and evolutionary origins.

The paper analyzes genetic ancestry and population structure in the All of Us Research Program cohort, revealing diverse ancestry patterns and population structure.

The paper integrates long-read sequencing and gene expression to prioritize functional structural variants and tandem repeats in rare disease patients, identifying potential causal variants in a neurodevelopmental disorder.

The paper uses long-read sequencing data to analyze STR variability across 2,645 individuals, identifying disease-associated STR loci with elevated allelic variability and introducing the PLVI metric.

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

The paper introduces a new TR catalog, TRExplorer v1.0, containing 4.86 million loci, designed for both short-read and long-read analyses and includes variation clusters identified using long-read HiFi data.

This study identifies biallelic COX18 variants as a cause of autosomal recessive axonal CMT with peripheral neuropathy and potential central nervous system involvement.

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

This study generates a Sord knockout rat model to study SORD deficiency, revealing motor-predominant neuropathy with elevated sorbitol and neurofilament light chain levels.

The paper tests SIPA1L2 as a modifier of CMT1A using mouse models and identifies some genetic interactions but finds a small overall effect on neuropathy.

The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

RExPRT predicts pathogenicity of tandem repeat expansions with high precision, identifying ~30,000 likely pathogenic TRs in the reference genome.

The paper develops and validates a strategy to detect FGF14 GAA repeat expansions using PCR and Sanger sequencing, showing comparable accuracy to nanopore sequencing and suitable for clinical use.

The paper introduces TRGT, a tool for tandem repeat genotyping, and a database of 937,122 TRs across 100 genomes, achieving high concordance and detecting repeat expansions, methylation, and mosaicism.

The paper investigates mutagenesis in early embryos of Xenopus and Drosophila, showing that translesion DNA synthesis (TLS) driven by Rad18 contributes to high mutation rates.

The paper shows that mutant mitofusin in C. elegans leads to differential removal of mtDNA deletions across generations, with smaller deletions being lost faster.

The paper identifies a new gene, orion, which is secreted by neurons and recruits astrocytes for axon pruning and debris removal during neuronal remodeling in Drosophila.

The paper identifies an enrichment of rare protein-truncating variants in ALS patients, highlighting novel genes like DNAJC7 and known ALS genes such as SOD1, NEK1, and FUS.